Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Triglyceride storage disease with myopathy is an autosomal recessive disorder caused by mutations of the PNPLA2 gene.
Neutral lipid storage disease
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Neutral lipid storage disease with ichtiosis
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Neutral lipid storage disease with myopathy
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PNPLA2
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| 1. |
Fischer J et al. (2007) The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. 
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| 2. |
Akiyama M et al. (2007) Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.
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| 3. |
Reilich P et al. (2011) The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
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| 4. |
Lin P et al. (2012) Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy.
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| 5. |
Janssen MC et al. (2013) Symptomatic lipid storage in carriers for the PNPLA2 gene.
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| 6. |
OMIM.ORG article Omim 610717
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| 7. |
Orphanet article Orphanet ID 98908
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